Submissions for variant NM_000760.4(CSF3R):c.108C>T (p.Val36=)

gnomAD frequency: 0.00193  dbSNP: rs3918011

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500707	SCV000594234	likely benign	not specified	2017-02-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958047	SCV001104872	benign	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	2024-01-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001172212	SCV001335198	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	CSF3R: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001172212	SCV005263658	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001172212	SCV001929486	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001172212	SCV001964586	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932824	SCV004750268	likely benign	CSF3R-related disorder	2020-02-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).